National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Progeria


Other Names:
Hutchinson Gilford progeria syndrome; Hutchinson Gilford syndrome; HGPS
Categories:
Progeria is a rare condition characterized by dramatic, rapid aging beginning in childhood.[1][2] Affected newborns usually appear normal but within a year, their growth rate slows significantly. Affected children develop a distinctive appearance characterized by baldness, aged-looking skin, a pinched nose, and a small face and jaw relative to head size. They also often have symptoms typically seen in much older people including joint stiffness, hip dislocations and severe, progressive cardiovascular disease. Intelligence is typically normal.[2] The average lifespan is age 13-14; death is usually due to heart attack or stroke.[2][3] Progeria is caused by mutations in the LMNA gene, but almost always results from a new mutation rather than being inherited from a parent.[1] Management focuses on the individual signs and symptoms of the condition. Although there is currently no cure, research involving treatment is ongoing and progress is being made.
Last updated: 10/28/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abnormal trabecular bone morphology 0100671
Absence of pubertal development 0008197
Alopecia
Hair loss
0001596
Aplastic clavicle
Absent collarbone
0006660
Bilateral coxa valga 0010665
Bird-like facies
Bird-like facial appearance
0000320
Craniofacial disproportion 0005461
Decreased serum estradiol 0008214
Decreased serum testosterone level
Decreased serum testosterone levels
Low serum testosterone level
Low serum testosterone levels
[ more ] 		0040171
Delayed eruption of teeth
Delayed eruption
Delayed teeth eruption
Delayed tooth eruption
Eruption, delayed
Late eruption of teeth
Late tooth eruption
[ more ] 		0000684
Failure to thrive
Faltering weight
Weight faltering
[ more ] 		0001508
High pitched voice 0001620
Hyperinsulinemia 0000842
Hypogonadotropic hypogonadism 0000044
Hypoplastic facial bones
Decreased size of facial bones
Decreased size of facial skeleton
[ more ] 		0002692
Infertility 0000789
Joint stiffness
Stiff joint
Stiff joints
[ more ] 		0001387
Lipoatrophy
Loss of fat tissue in localized area
0100578
Micrognathia
Little lower jaw
Small jaw
Small lower jaw
[ more ] 		0000347
Multiple joint contractures 0002828
Narrow mouth
Small mouth
0000160
Nasal speech
Nasal voice
0001611
Osteoporosis 0000939
Prominent forehead
Pronounced forehead
Protruding forehead
[ more ] 		0011220
Prominent scalp veins 0001043
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Sensorineural hearing impairment 0000407
Short clavicles
Short collarbone
0000894
Short stature
Decreased body height
Small stature
[ more ] 		0004322
Sparse hair 0008070
Thin bony cortex 0002753
Thrombocytosis
Increased number of platelets in blood
0001894
30%-79% of people have these symptoms
Absent eyelashes
Failure of development of eyelashes
0000561
Aminoaciduria
High urine amino acid levels
Increased levels of animo acids in urine
[ more ] 		0003355
Angina pectoris 0001681
Aplasia/Hypoplasia of the earlobes
Absent/small ear lobes
Absent/underdeveloped ear lobes
[ more ] 		0009906
Arteriosclerosis of small cerebral arteries 0004931
Broad-based gait
Wide based walk
0002136
Cyanosis
Blue discoloration of the skin
0000961
Hepatic steatosis
Fatty infiltration of liver
Fatty liver
[ more ] 		0001397
Hypermetropia
Farsightedness
Long-sightedness
[ more ] 		0000540
Hyperphosphatemia
High blood phosphate levels
0002905
Hypertension 0000822
Hypodontia
Failure of development of between one and six teeth
0000668
Hypohidrosis
Decreased ability to sweat
Decreased sweating
Sweating, decreased
[ more ] 		0000966
Hypoplastic nipples
Small nipples
0002557
Intermittent claudication 0004417
Keratoconjunctivitis sicca
Dry eyes
0001097
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Lack of skin elasticity 0100679
Macrotia
Large ears
0000400
Metaphyseal widening
Broad wide portion of long bone
0003016
Nail dysplasia
Atypical nail growth
0002164
Narrow nasal tip
Narrow tip of nose
Nasal tip, narrow
Nasal tip, pinched
Pinched nasal tip
Pinched tip of nose
Thin nasal tip
Thin tip of nose
[ more ] 		0011832
Osteoarthritis
Degenerative joint disease
0002758
Ovoid vertebral bodies 0003300
Premature coronary artery atherosclerosis
Premature coronary artery disease
0005181
Premature graying of hair
Early graying
Premature graying
Premature greying
Premature hair graying
[ more ] 		0002216
Prolonged prothrombin time 0008151
Reticulated skin pigmentation 0007427
Sparse and thin eyebrow
Thin, sparse eyebrows
0000535
Tapering pointed ends of distal finger phalanges 0006224
Thin nail
Thin nails
0001816
Thin ribs
Slender ribs
0000883
Thin skin 0000963
Thin vermilion border
Decreased volume of lip
Thin lips
[ more ] 		0000233
Widely patent fontanelles and sutures 0004492
5%-29% of people have these symptoms
Acanthosis nigricans
Darkened and thickened skin
0000956
Carotid artery stenosis
Narrowing of carotid artery
0100546
Dental crowding
Crowded teeth
Dental overcrowding
Overcrowding of teeth
[ more ] 		0000678
Hip dislocation
Dislocated hips
Dislocation of hip
[ more ] 		0002827
Hypertriglyceridemia
Increased plasma triglycerides
Increased serum triglycerides
Increased triglycerides
[ more ] 		0002155
Insulin-resistant diabetes mellitus at puberty 0000877
Osteopenia 0000938
Prolonged QT interval 0001657
Regional abnormality of skin 0011356
Sinus tachycardia 0011703
Transient ischemic attack
Mini stroke
0002326
1%-4% of people have these symptoms
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Left ventricular hypertrophy 0001712
Percent of people who have these symptoms is not available through HPO
Absence of subcutaneous fat
Absent fat below the skin
Lack of fatty tissue below the skin
[ more ] 		0007485
Autosomal dominant inheritance 0000006
Autosomal recessive inheritance 0000007
Congestive heart failure
Cardiac failure
Cardiac failures
Heart failure
[ more ] 		0001635
Generalized osteoporosis 0040160
Growth delay
Delayed growth
Growth deficiency
Growth failure
Growth retardation
Poor growth
Retarded growth
[ more ] 		0001510
Malar flattening
Zygomatic flattening
0000272
Midface retrusion
Decreased size of midface
Midface deficiency
Underdevelopment of midface
[ more ] 		0011800
Myocardial infarction
Heart attack
0001658
Osteolysis
Breakdown of bone
0002797
Precocious atherosclerosis 0004416
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Last updated: 7/1/2020

Mutations in the LMNA gene cause Hutchinson-Gilford progeria syndrome.[1]

The LMNA gene provides instructions for making a protein called lamin A. This protein plays an important role in determining the shape of the nucleus within cells. It is an essential scaffolding (supporting) component of the nuclear envelope, which is the membrane that surrounds the nucleus. Mutations that cause Hutchinson-Gilford progeria syndrome result in the production of an abnormal version of the lamin A protein. The altered protein makes the nuclear envelope unstable and progressively damages the nucleus, making cells more likely to die prematurely. Researchers are working to determine how these changes lead to the characteristic features of Hutchinson-Gilford progeria syndrome.[1]

Last updated: 10/28/2015
Management for progeria generally focuses on the signs and symptoms of the condition and may include the following:
  • Exercise, diet modification, and medication when the lipid profile becomes abnormal
  • Frequent small meals to maximize caloric intake
  • Oral hydration
  • Use of shoe pads for foot discomfort due to lack of body fat
  • Use of sunscreen on all exposed areas of skin
  • Nitroglycerin for angina
  • Routine anticongestive therapy if congestive heart failure is present
  • Statins for their putative effect on farnesylation inhibition
  • Anticoagulation therapy if vascular blockage, transient ischemic attacks, stroke, angina, or heart attack occur
  • Routine physical and occupational therapy to help maintain range of motion in large and small joints[4]

Although there is currently no cure for progeria, research involving treatments is ongoing and scientists have been making much progress. The results of a recently published phase II clinical trial provided preliminary evidence that lonafarnib, a farnesyltransferase inhibitor, may improve cardiovascular status, bone structure, and audiological (hearing) status in affected children.[5] A free, full-text version of this study is available on PubMed and can be viewed by clicking here.

Last updated: 11/19/2012
Progeria is very rare. It is reported to occur in 1 in 4-8 million newborns worldwide.[1][2][3] It is estimated that at any one time, there are between 200-250 children living with progeria.[3] 
Last updated: 10/28/2015

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

  • ClinicalTrials.gov lists trials that are related to Progeria. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

    Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Progeria. This website is maintained by the National Library of Medicine.
  • The National Human Genome Research Institute's (NHGRI) website has an information page on this topic. NHGRI is part of the National Institutes of Health and supports research on the structure and function of the human genome and its role in health and disease.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Progeria. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • What chromosome is this disorder on? How many people are affected by this disorder? See answer

  • Where is the gene responsible for Hutchinson-Gilford progeria syndrome located? See answer


  1. Hutchinson-Gilford progeria syndrome. Genetics Home Reference (GHR). 2007; http://ghr.nlm.nih.gov/condition/hutchinson-gilford-progeria-syndrome.
  2. Learning About Progeria. National Human Genome Research Institute (NHGRI). December 27, 2013; http://www.genome.gov/11007255.
  3. Progeria 101 / FAQ. Progeria Research Foundation. 2015; https://www.progeriaresearch.org/progeria-101faq/.
  4. Leslie B Gordon, W Ted Brown, and Francis S Collins. Hutchinson-Gilford Progeria Syndrome. GeneReviews. January 6, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1121/.
  5. Leslie B. Gordon, et al. Clinical trial of a farnesyltransferase inhibitor in children with Hutchinson–Gilford progeria syndrome. Proc Natl Acad Sci. October 9, 2012; 109(41):16666–16671. http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3478615/.